Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1435266782
rs1435266782
IDH2
2 0.925 0.040 15 90088633 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2018 2018